| 000 | 01357 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250515113020.0 | ||
| 264 | 0 | _c20080429 | |
| 008 | 200804s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.32242 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGraul-Neumann, Luitgard M | |
| 245 | 0 | 0 |
_aHighly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cApr 2008 |
||
| 300 |
_a977-83 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aCells, Cultured |
| 650 | 0 | 4 |
_aCutis Laxa _xdiagnosis |
| 650 | 0 | 4 |
_aDermis _xpathology |
| 650 | 0 | 4 |
_aElastin _xgenetics |
| 650 | 0 | 4 |
_aFibroblasts _xmetabolism |
| 650 | 0 | 4 | _aGenes, Dominant |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMicroscopy, Electron |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aRNA Splicing |
| 700 | 1 | _aHausser, Ingrid | |
| 700 | 1 | _aEssayie, Maximilian | |
| 700 | 1 | _aRauch, Anita | |
| 700 | 1 | _aKraus, Cornelia | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 146A _gno. 8 _gp. 977-83 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.32242 _zAvailable from publisher's website |
| 999 |
_c17849492 _d17849492 |
||